Mutagenetix > Incidental Mutation

Incidental Mutation 'R0525:Slc16a4'

48829

Institutional Source

Beutler Lab

Gene Symbol

Slc16a4

Ensembl Gene

ENSMUSG00000027896

Gene Name

solute carrier family 16 (monocarboxylic acid transporters), member 4

Synonyms

MMRRC Submission

038718-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0525 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107198546-107219431 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to C at 107205255 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000102334 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029502] [ENSMUST00000106723]

AlphaFold

Q8R0M8

Predicted Effect

probably benign
Transcript: ENSMUST00000029502

SMART Domains

Protein: ENSMUSP00000029502
Gene: ENSMUSG00000027896

Domain	Start	End	E-Value	Type
Pfam:MFS_1	27	373	8.2e-26	PFAM
Pfam:MFS_1	305	499	2e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106723

SMART Domains

Protein: ENSMUSP00000102334
Gene: ENSMUSG00000027896

Domain	Start	End	E-Value	Type
Pfam:MFS_1	27	375	2.1e-28	PFAM
Pfam:MFS_1	327	462	3.6e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153322

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.8%

Validation Efficiency

100% (72/72)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933440M02Rik	T	A	7: 124,930,671 (GRCm39)		noncoding transcript	Het
A930002H24Rik	A	G	17: 64,170,642 (GRCm39)	W49R	unknown	Het
Abca13	G	A	11: 9,243,371 (GRCm39)	V1745M	probably damaging	Het
Abca16	T	G	7: 120,065,033 (GRCm39)	Y563*	probably null	Het
Acot12	C	T	13: 91,908,186 (GRCm39)		probably benign	Het
Alms1	G	A	6: 85,564,742 (GRCm39)	A39T	unknown	Het
Arid5b	T	C	10: 67,933,676 (GRCm39)	D742G	possibly damaging	Het
Atp1a4	G	A	1: 172,067,255 (GRCm39)		probably benign	Het
AU021092	T	A	16: 5,035,725 (GRCm39)	E145V	possibly damaging	Het
Calr4	A	T	4: 109,099,461 (GRCm39)		probably benign	Het
Clip4	T	A	17: 72,106,093 (GRCm39)		probably null	Het
Cnpy4	A	T	5: 138,190,878 (GRCm39)	H180L	probably benign	Het
Cyp2j9	T	C	4: 96,467,802 (GRCm39)		probably null	Het
Dgkq	A	G	5: 108,802,481 (GRCm39)	S406P	probably damaging	Het
Dhx8	G	A	11: 101,654,754 (GRCm39)	C1014Y	probably damaging	Het
Dnah3	T	C	7: 119,527,977 (GRCm39)	Y3824C	probably damaging	Het
Donson	A	T	16: 91,483,133 (GRCm39)	H69Q	probably damaging	Het
Dppa3	A	G	6: 122,606,939 (GRCm39)	E143G	probably damaging	Het
Drg1	A	G	11: 3,212,545 (GRCm39)	F96L	probably damaging	Het
Dvl1	A	C	4: 155,940,052 (GRCm39)	T395P	probably damaging	Het
Eftud2	A	T	11: 102,730,079 (GRCm39)	V897D	probably damaging	Het
Enpp6	A	G	8: 47,535,478 (GRCm39)	N341S	possibly damaging	Het
F11	A	G	8: 45,706,086 (GRCm39)	F100L	probably benign	Het
Fas	T	C	19: 34,296,727 (GRCm39)	Y189H	probably damaging	Het
Galnt14	G	T	17: 73,852,076 (GRCm39)	S114R	probably damaging	Het
Gfpt2	A	G	11: 49,720,602 (GRCm39)	I528V	probably benign	Het
Glt6d1	A	G	2: 25,684,280 (GRCm39)	V242A	possibly damaging	Het
Grm1	A	T	10: 10,594,953 (GRCm39)		probably benign	Het
Gskip	G	A	12: 105,665,224 (GRCm39)	A88T	probably damaging	Het
Gtpbp1	A	G	15: 79,597,648 (GRCm39)	I348V	probably benign	Het
Hnrnpul1	C	A	7: 25,440,308 (GRCm39)	R316L	possibly damaging	Het
Il34	T	C	8: 111,474,915 (GRCm39)	E121G	probably damaging	Het
Lrr1	T	C	12: 69,215,685 (GRCm39)	L19P	probably damaging	Het
Mat2b	A	G	11: 40,573,496 (GRCm39)		probably benign	Het
Mettl21e	T	C	1: 44,245,542 (GRCm39)	K235E	probably damaging	Het
Mir124-2hg	T	A	3: 17,839,693 (GRCm39)	E126V	possibly damaging	Het
Myh15	A	G	16: 48,952,414 (GRCm39)	K828R	probably benign	Het
Myom3	A	G	4: 135,492,237 (GRCm39)	D127G	possibly damaging	Het
Nek5	C	A	8: 22,569,093 (GRCm39)		probably benign	Het
Nudt7	A	T	8: 114,878,392 (GRCm39)		probably null	Het
Or10ag56	A	T	2: 87,139,693 (GRCm39)	T187S	probably benign	Het
Or10d4c	T	G	9: 39,558,767 (GRCm39)	C248W	probably damaging	Het
Or1j4	T	C	2: 36,740,202 (GRCm39)	L48P	probably damaging	Het
Or4a67	G	A	2: 88,597,658 (GRCm39)	Q334*	probably null	Het
Or8k23	C	T	2: 86,186,619 (GRCm39)	V36I	probably benign	Het
Phyhd1	A	G	2: 30,171,040 (GRCm39)	H241R	probably damaging	Het
Pmch	T	C	10: 87,927,262 (GRCm39)		probably benign	Het
Ror1	A	G	4: 100,298,717 (GRCm39)	S697G	probably damaging	Het
Rslcan18	A	G	13: 67,260,322 (GRCm39)	V25A	probably benign	Het
Sema6b	T	C	17: 56,433,630 (GRCm39)	H426R	probably damaging	Het
Serpina3g	T	C	12: 104,204,598 (GRCm39)	F9S	probably damaging	Het
Serpinb12	T	A	1: 106,874,432 (GRCm39)	H52Q	probably benign	Het
Sh3gl1	T	C	17: 56,324,873 (GRCm39)	K294R	probably benign	Het
Sidt1	G	T	16: 44,079,809 (GRCm39)	T615K	possibly damaging	Het
Sned1	T	A	1: 93,199,696 (GRCm39)		probably null	Het
Sp2	A	T	11: 96,846,924 (GRCm39)		probably benign	Het
Steap1	T	A	5: 5,792,903 (GRCm39)	I3F	possibly damaging	Het
Stxbp5l	A	T	16: 36,950,159 (GRCm39)		probably null	Het
Tbc1d9	G	T	8: 83,995,614 (GRCm39)	V968F	probably benign	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Triobp	T	C	15: 78,858,098 (GRCm39)	L1233P	possibly damaging	Het
Trp53bp1	C	A	2: 121,082,349 (GRCm39)	A317S	probably null	Het
Trpc4ap	A	G	2: 155,482,398 (GRCm39)	F531L	possibly damaging	Het
Ugt1a10	C	T	1: 88,145,971 (GRCm39)	P473L	probably damaging	Het
Vmn1r86	T	C	7: 12,836,088 (GRCm39)	K213E	probably benign	Het
Vps8	G	A	16: 21,358,859 (GRCm39)		probably null	Het
Wnk1	A	T	6: 119,903,525 (GRCm39)	S2563T	probably damaging	Het
Yrdc	C	G	4: 124,745,559 (GRCm39)	R3G	probably damaging	Het
Zfp287	A	T	11: 62,606,070 (GRCm39)	V279E	probably benign	Het

Other mutations in Slc16a4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01065:Slc16a4	APN	3	107,210,416 (GRCm39)	missense	possibly damaging	0.67
IGL01311:Slc16a4	APN	3	107,199,821 (GRCm39)	missense	possibly damaging	0.83
IGL01509:Slc16a4	APN	3	107,218,750 (GRCm39)	critical splice acceptor site	probably null
IGL01780:Slc16a4	APN	3	107,210,415 (GRCm39)	missense	probably benign	0.00
IGL02294:Slc16a4	APN	3	107,208,384 (GRCm39)	missense	probably benign	0.00
IGL02350:Slc16a4	APN	3	107,210,415 (GRCm39)	missense	probably benign	0.00
IGL02357:Slc16a4	APN	3	107,210,415 (GRCm39)	missense	probably benign	0.00
IGL02792:Slc16a4	APN	3	107,206,193 (GRCm39)	missense	probably benign
IGL02873:Slc16a4	APN	3	107,208,111 (GRCm39)	missense	probably benign	0.00
IGL03001:Slc16a4	APN	3	107,218,858 (GRCm39)	missense	possibly damaging	0.91
IGL03002:Slc16a4	APN	3	107,208,102 (GRCm39)	missense	probably benign	0.07
R0370:Slc16a4	UTSW	3	107,208,413 (GRCm39)	missense	possibly damaging	0.66
R1192:Slc16a4	UTSW	3	107,206,189 (GRCm39)	missense	probably benign	0.07
R1458:Slc16a4	UTSW	3	107,208,248 (GRCm39)	missense	probably benign	0.00
R1939:Slc16a4	UTSW	3	107,208,317 (GRCm39)	missense	probably benign	0.00
R2061:Slc16a4	UTSW	3	107,208,027 (GRCm39)	missense	probably benign	0.00
R2098:Slc16a4	UTSW	3	107,208,163 (GRCm39)	nonsense	probably null
R2102:Slc16a4	UTSW	3	107,211,819 (GRCm39)	splice site	probably null
R3411:Slc16a4	UTSW	3	107,208,188 (GRCm39)	missense	probably benign
R4983:Slc16a4	UTSW	3	107,208,176 (GRCm39)	missense	probably benign	0.00
R5394:Slc16a4	UTSW	3	107,199,758 (GRCm39)	missense	probably benign
R5804:Slc16a4	UTSW	3	107,206,280 (GRCm39)	missense	probably benign	0.04
R6077:Slc16a4	UTSW	3	107,208,381 (GRCm39)	missense	possibly damaging	0.91
R6626:Slc16a4	UTSW	3	107,208,512 (GRCm39)	missense	possibly damaging	0.95
R6693:Slc16a4	UTSW	3	107,210,380 (GRCm39)	missense	probably damaging	1.00
R6811:Slc16a4	UTSW	3	107,206,233 (GRCm39)	missense	probably benign	0.06
R6823:Slc16a4	UTSW	3	107,218,814 (GRCm39)	missense	probably benign	0.02
R6982:Slc16a4	UTSW	3	107,206,589 (GRCm39)	missense	probably benign	0.01
R7050:Slc16a4	UTSW	3	107,208,148 (GRCm39)	missense	probably benign
R7103:Slc16a4	UTSW	3	107,218,787 (GRCm39)	missense	probably damaging	1.00
R7608:Slc16a4	UTSW	3	107,210,443 (GRCm39)	missense	probably damaging	1.00
R7623:Slc16a4	UTSW	3	107,205,297 (GRCm39)	missense	possibly damaging	0.71
R8013:Slc16a4	UTSW	3	107,218,794 (GRCm39)	missense	probably damaging	1.00
R8014:Slc16a4	UTSW	3	107,218,794 (GRCm39)	missense	probably damaging	1.00
R8713:Slc16a4	UTSW	3	107,218,901 (GRCm39)	makesense	probably null
R8876:Slc16a4	UTSW	3	107,208,101 (GRCm39)	missense	probably benign	0.12
R9266:Slc16a4	UTSW	3	107,199,788 (GRCm39)	missense	probably benign	0.10
R9661:Slc16a4	UTSW	3	107,213,359 (GRCm39)	missense	probably benign
X0018:Slc16a4	UTSW	3	107,208,131 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TCTCGACCTCTTGCCTCCAGATAAG -3'
(R):5'- CTTCAGCCCTAAAGGAGTGATGGTG -3'

Sequencing Primer
(F):5'- agagagtagtggggagtcaag -3'
(R):5'- TGGTCATTCTCCATAGACAGCAAG -3'

Posted On

2013-06-12